List of variants in gene AMN reported as likely benign for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_030943.4(AMN):c.773T>C (p.Leu258Ser)	rs190222721	0.00544
NM_030943.4(AMN):c.1169+11C>G	rs764673271	0.00115
NM_030943.4(AMN):c.844-3C>T	rs145519816	0.00088
NM_030943.4(AMN):c.835C>T (p.Leu279=)	rs371426960	0.00056
NM_030943.4(AMN):c.63C>T (p.Ser21=)	rs150802428	0.00051
NM_030943.4(AMN):c.735C>T (p.Pro245=)	rs546245909	0.00038
NM_030943.4(AMN):c.909C>T (p.Ala303=)	rs373382273	0.00031
NM_030943.4(AMN):c.1258-14C>G	rs767004707	0.00029
NM_030943.4(AMN):c.603C>A (p.Gly201=)	rs535197788	0.00014
NM_030943.4(AMN):c.93C>T (p.Asp31=)	rs772599857	0.00011
NM_030943.4(AMN):c.841C>T (p.Leu281=)	rs569327877	0.00007
NM_030943.4(AMN):c.45A>C (p.Ala15=)	rs753339887	0.00006
NM_030943.4(AMN):c.1176G>A (p.Arg392=)	rs1052377523	0.00004
NM_030943.4(AMN):c.1179G>A (p.Arg393=)	rs1434288624	0.00003
NM_030943.4(AMN):c.207+9G>A	rs765056352	0.00001
NM_030943.4(AMN):c.492C>G (p.Arg164=)	rs1388154450	0.00001
NM_030943.4(AMN):c.1152C>T (p.Arg384=)	rs763597496
NM_030943.4(AMN):c.1257+20dup	rs759269975

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.